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Temperature-Sensitive Type I Oculocutaneous Albinism

mutation in tyrosinase

Also Known As:

Albinism, Oculocutaneous, Type I, Temperature-Sensitive; OCA1TS

Networked: 1 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Eye Diseases: 3522
- Hereditary Eye Diseases: 18
  - Albinism: 486
    - Oculocutaneous Albinism: 361
      - Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Skin and Connective Tissue Diseases
- Skin Diseases: 13127
  - Pigmentation Disorders: 149
    - Hypopigmentation: 836
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Temperature-Sensitive Type I Oculocutaneous Albinism: 1
  - Genetic Skin Diseases: 47
    - Albinism: 486
      - Oculocutaneous Albinism: 361
        Temperature-Sensitive Type I Oculocutaneous Albinism: 1
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Amino Acid Metabolism: 1
      - Albinism: 486
        Oculocutaneous Albinism: 361
        Temperature-Sensitive Type I Oculocutaneous Albinism: 1

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Temperature-Sensitive Type I Oculocutaneous Albinism:

1.	Monophenol Monooxygenase (Tyrosinase)IBA 03/01/1991 - "A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. "